Abstract
McLeod syndrome is an X-linked recessive neuroacanthocytosis syndrome, due to mutations of the gene encoding for the McLeod protein XK. Symptoms include chorea and other movement disorders, and several other peripheral and central neurological abnormalities. Psychiatric and cognitive impairment is typical, as are cardiomyopathy and hepatosplenomegaly. Elevated creatine kinase and liver enzyme abnormalities suggest the diagnosis.
| Original language | English |
|---|---|
| Title of host publication | Encyclopedia of Movement Disorders |
| Publisher | Elsevier Inc. |
| Pages | 162-164 |
| Number of pages | 3 |
| ISBN (Electronic) | 9780123741059 |
| ISBN (Print) | 9780123741011 |
| DOIs | |
| State | Published - 1 Jan 2010 |
Keywords
- Acanthocytosis
- Chorea
- Erythrocyte
- McLeod syndrome
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